Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.45092833_45092855delinsGTCACTTGCTCAGGAAAGCCTTC | CA2366061495 | KCNS1 | c.*2015_*2037delinsGAAGGCTTTCCTGAGCAAGTGAC (n.*2015_*2037delinsGAAGGCTTTCCTGAGCAAGTGAC) | |
20 | g.45092840_45092861del | CA2366061496 | KCNS1 | c.*2015_*2036del (n.*2015_*2036del) | dbSNP |
20 | g.45092852C>A | CA2580618841 | KCNS1 | c.*2018G>T (n.*2018G>T) | gnomAD v4 |
20 | g.45092852C= | CA2366061502 | KCNS1 | c.*2018G= (n.*2018G=) | |
20 | g.45092852C>G | CA2580618840 | KCNS1 | c.*2018G>C (n.*2018G>C) | |
20 | g.45092852C>T | CA14775737 | KCNS1 | c.*2018G>A (n.*2018G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092853T>C | CA744795684 | KCNS1 | c.*2017A>G (n.*2017A>G) | dbSNP |
20 | g.45092853T= | CA2366061503 | KCNS1 | c.*2017A= (n.*2017A=) | |
20 | g.45092854T>C | CA2653024181 | KCNS1 | c.*2016A>G (n.*2016A>G) | gnomAD v4 |
20 | g.45092857C>A | CA2653024182 | KCNS1 | c.*2013G>T (n.*2013G>T) | gnomAD v4 |
20 | g.45092857C= | CA2366061504 | KCNS1 | c.*2013G= (n.*2013G=) | |
20 | g.45092857C>T | CA2366061505 | KCNS1 | c.*2013G>A (n.*2013G>A) | dbSNP |
20 | g.45092858A= | CA2366061506 | KCNS1 | c.*2012T= (n.*2012T=) | |
20 | g.45092858A>C | CA315503446 | KCNS1 | c.*2012T>G (n.*2012T>G) | dbSNP |
20 | g.45092859C>A | CA2653024183 | KCNS1 | c.*2011G>T (n.*2011G>T) | gnomAD v4 |
20 | g.45092861T>C | CA2653024184 | KCNS1 | c.*2009A>G (n.*2009A>G) | gnomAD v4 |
20 | g.45092861_45092874delinsTTCTCGGGCCATGG | CA2366061507 | KCNS1 | c.*1996_*2009delinsCCATGGCCCGAGAA (n.*1996_*2009delinsCCATGGCCCGAGAA) | |
20 | g.45092864_45092876del | CA744795688 | KCNS1 | c.*1996_*2008del (n.*1996_*2008del) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092863C>A | CA2653024185 | KCNS1 | c.*2007G>T (n.*2007G>T) | gnomAD v4 |
20 | g.45092864T>A | CA2366061508 | KCNS1 | c.*2006A>T (n.*2006A>T) | dbSNP |
20 | g.45092864T= | CA2366061509 | KCNS1 | c.*2006A= (n.*2006A=) | |
20 | g.45092865C= | CA2366061510 | KCNS1 | c.*2005G= (n.*2005G=) | |
20 | g.45092865C>T | CA744795691 | KCNS1 | c.*2005G>A (n.*2005G>A) | dbSNP |
20 | g.45092866G>A | CA315503469 | KCNS1 | c.*2004C>T (n.*2004C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092866G= | CA2366061511 | KCNS1 | c.*2004C= (n.*2004C=) | |
20 | g.45092867G>A | CA2653024186 | KCNS1 | c.*2003C>T (n.*2003C>T) | gnomAD v4 |
20 | g.45092868G>A | CA744795696 | KCNS1 | c.*2002C>T (n.*2002C>T) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092868G= | CA2366061512 | KCNS1 | c.*2002C= (n.*2002C=) | |
20 | g.45092869C>G | CA2653024187 | KCNS1 | c.*2001G>C (n.*2001G>C) | gnomAD v4 |
20 | g.45092870C>A | CA2653024188 | KCNS1 | c.*2000G>T (n.*2000G>T) | gnomAD v4 |
20 | g.45092870C= | CA2366061513 | KCNS1 | c.*2000G= (n.*2000G=) | |
20 | g.45092870C>G | CA2653024189 | KCNS1 | c.*2000G>C (n.*2000G>C) | gnomAD v4 |
20 | g.45092870C>T | CA1017880601 | KCNS1 | c.*2000G>A (n.*2000G>A) | dbSNP |
20 | g.45092871A= | CA2366061514 | KCNS1 | c.*1999T= (n.*1999T=) | |
20 | g.45092871A>G | CA1017880603 | KCNS1 | c.*1999T>C (n.*1999T>C) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092873G>T | CA2653024190 | KCNS1 | c.*1997C>A (n.*1997C>A) | gnomAD v4 |
20 | g.45092877C>A | CA2653024191 | KCNS1 | c.*1993G>T (n.*1993G>T) | gnomAD v4 |
20 | g.45092878C>A | CA2653024192 | KCNS1 | c.*1992G>T (n.*1992G>T) | gnomAD v4 |
20 | g.45092878C= | CA2366061515 | KCNS1 | c.*1992G= (n.*1992G=) | |
20 | g.45092878C>T | CA315503471 | KCNS1 | c.*1992G>A (n.*1992G>A) | dbSNP |
20 | g.45092879T>C | CA2653024193 | KCNS1 | c.*1991A>G (n.*1991A>G) | gnomAD v4 |
20 | g.45092879T>G | CA635996448 | KCNS1 | c.*1991A>C (n.*1991A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092879T= | CA2366061516 | KCNS1 | c.*1991A= (n.*1991A=) | |
20 | g.45092886T>G | CA1017880607 | KCNS1 | c.*1984A>C (n.*1984A>C) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.45092886T= | CA2366061517 | KCNS1 | c.*1984A= (n.*1984A=) | |
20 | g.45092888A= | CA2366061518 | KCNS1 | c.*1982T= (n.*1982T=) | |
20 | g.45092888A>G | CA744795706 | KCNS1 | c.*1982T>C (n.*1982T>C) | dbSNP |
20 | g.45092890A= | CA2366061519 | KCNS1 | c.*1980T= (n.*1980T=) | |
20 | g.45092890A>G | CA315503476 | KCNS1 | c.*1980T>C (n.*1980T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.45092891C>A | CA2653024194 | KCNS1 | c.*1979G>T (n.*1979G>T) | gnomAD v4 |